| Remarks |
Clinically affected; poor fetal growth; long QT post delivery; absent or sparse speech; hypotonia; limited walking ability; delayed motor development; strabismus; defective vision (wears glasses); fleshy ears; broad, beaked nasal bridge; flaring nostrils; downturned/pointed nasal tip; deep-set eyes; squint; short philtrum; tented/cupid bowed upper lip; downturned mouth; slender/small hands; slender/small feet; thin corpus callosum; happy personality; genetic testing confirmed heterozygous for de novo splice site mutation in TCF4 gene (c.1297-1G>T); treatment and management include: physical, speech, and occupational therapy. |